Mutagenetix > Incidental Mutation

Incidental Mutation 'R6903:Hspa13'

538661

Institutional Source

Beutler Lab

Gene Symbol

Hspa13

Ensembl Gene

ENSMUSG00000032932

Gene Name

heat shock protein 70 family, member 13

Synonyms

Stch, B230217N24Rik, 60kDa, 1600002I10Rik

MMRRC Submission

044996-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.678) question?

Stock #

R6903 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75552078-75564575 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 75554872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 405 (V405L)

Ref Sequence

ENSEMBL: ENSMUSP00000048817 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046283] [ENSMUST00000114244] [ENSMUST00000232633]

AlphaFold

Q8BM72

Predicted Effect

probably damaging
Transcript: ENSMUST00000046283
AA Change: V405L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048817
Gene: ENSMUSG00000032932
AA Change: V405L

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:HSP70	33	347	3.4e-79	PFAM
Pfam:HSP70	349	460	5e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114244

SMART Domains

Protein: ENSMUSP00000109882
Gene: ENSMUSG00000032932

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:HSP70	33	260	1.2e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000232633

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.3%

Validation Efficiency

100% (46/46)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the heat shock protein 70 family and is found associated with microsomes. Members of this protein family play a role in the processing of cytosolic and secretory proteins, as well as in the removal of denatured or incorrectly-folded proteins. The encoded protein contains an ATPase domain and has been shown to associate with a ubiquitin-like protein. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,143,952 (GRCm39)	L15Q	probably benign	Het
Acsf2	T	C	11: 94,450,417 (GRCm39)	M497V	probably benign	Het
Adnp2	T	C	18: 80,173,305 (GRCm39)	N368S	probably benign	Het
BC034090	T	C	1: 155,097,131 (GRCm39)	T656A	probably benign	Het
Bsph1	A	G	7: 13,192,183 (GRCm39)	Y26C	probably damaging	Het
Cct7	T	C	6: 85,443,675 (GRCm39)	F306L	probably benign	Het
Cd109	A	G	9: 78,543,885 (GRCm39)	Q143R	probably damaging	Het
Cfap46	A	T	7: 139,234,477 (GRCm39)		probably null	Het
Col3a1	A	G	1: 45,371,148 (GRCm39)	N436D	probably damaging	Het
Col6a3	T	C	1: 90,721,929 (GRCm39)	E1498G	probably damaging	Het
Cyp2u1	T	C	3: 131,096,424 (GRCm39)	D118G	probably benign	Het
Dek	A	G	13: 47,251,663 (GRCm39)	S51P	possibly damaging	Het
Dock6	C	T	9: 21,720,860 (GRCm39)	G1746D	probably damaging	Het
Dscam	T	A	16: 96,621,988 (GRCm39)	N488Y	probably damaging	Het
Ebpl	G	T	14: 61,597,693 (GRCm39)	Y49*	probably null	Het
Eefsec	C	T	6: 88,423,265 (GRCm39)	G66D	probably benign	Het
Epha6	T	A	16: 60,346,825 (GRCm39)	Y146F	probably benign	Het
Fcgbpl1	C	T	7: 27,836,638 (GRCm39)	R186C	probably damaging	Het
Frmd4a	A	G	2: 4,591,267 (GRCm39)	R96G	probably damaging	Het
Gm5814	A	G	17: 47,721,352 (GRCm39)		probably benign	Het
Iqgap2	A	G	13: 95,797,565 (GRCm39)	V1079A	probably damaging	Het
Kcnj9	C	A	1: 172,153,623 (GRCm39)	R167L	probably damaging	Het
Kdm1b	T	A	13: 47,227,880 (GRCm39)	D620E	probably benign	Het
Kif23	T	C	9: 61,834,436 (GRCm39)	R442G	possibly damaging	Het
Nectin1	C	A	9: 43,703,179 (GRCm39)	P146T	possibly damaging	Het
Noc4l	A	G	5: 110,797,461 (GRCm39)	I391T	probably damaging	Het
Npr1	C	A	3: 90,362,452 (GRCm39)	R956L	possibly damaging	Het
Or11g7	T	A	14: 50,691,412 (GRCm39)	M301K	possibly damaging	Het
Or11j4	T	A	14: 50,631,089 (GRCm39)	M292K	possibly damaging	Het
Pcdhgb2	T	C	18: 37,825,223 (GRCm39)	V738A	possibly damaging	Het
Ptpn20	A	G	14: 33,336,461 (GRCm39)	E100G	probably damaging	Het
Rgs10	A	G	7: 127,990,797 (GRCm39)	F97S	probably damaging	Het
Shisa6	T	C	11: 66,265,982 (GRCm39)		probably null	Het
Shld1	A	T	2: 132,592,564 (GRCm39)	K204*	probably null	Het
Sirpb1a	T	C	3: 15,481,984 (GRCm39)	T115A	probably damaging	Het
Supv3l1	A	G	10: 62,277,016 (GRCm39)	C251R	probably damaging	Het
Svopl	T	C	6: 37,998,543 (GRCm39)	S244G	probably benign	Het
Tes	T	C	6: 17,099,862 (GRCm39)	Y286H	probably damaging	Het
Tnfrsf22	G	A	7: 143,193,641 (GRCm39)		probably benign	Het
Vmn1r185	A	G	7: 26,311,160 (GRCm39)	I115T	probably damaging	Het
Vmn2r-ps117	A	G	17: 19,058,552 (GRCm39)	T703A	possibly damaging	Het
Zan	T	A	5: 137,454,566 (GRCm39)	I1413L	unknown	Het
Zc3h12d	G	T	10: 7,743,425 (GRCm39)	M398I	probably benign	Het
Zfp219	G	A	14: 52,244,118 (GRCm39)	T642M	probably benign	Het
Zfp646	G	A	7: 127,479,892 (GRCm39)	E690K	possibly damaging	Het
Zfr	T	A	15: 12,136,541 (GRCm39)	V66D	unknown	Het

Other mutations in Hspa13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:Hspa13	APN	16	75,554,880 (GRCm39)	missense	possibly damaging	0.86
IGL03350:Hspa13	APN	16	75,554,717 (GRCm39)	missense	probably damaging	1.00
R0329:Hspa13	UTSW	16	75,562,018 (GRCm39)	missense	probably damaging	1.00
R1018:Hspa13	UTSW	16	75,558,164 (GRCm39)	missense	possibly damaging	0.56
R1029:Hspa13	UTSW	16	75,562,125 (GRCm39)	missense	probably damaging	1.00
R2043:Hspa13	UTSW	16	75,555,156 (GRCm39)	missense	probably benign	0.01
R3404:Hspa13	UTSW	16	75,554,914 (GRCm39)	nonsense	probably null
R3766:Hspa13	UTSW	16	75,561,974 (GRCm39)	missense	probably benign	0.00
R4596:Hspa13	UTSW	16	75,555,114 (GRCm39)	missense	probably benign	0.01
R4610:Hspa13	UTSW	16	75,558,190 (GRCm39)	missense	probably benign	0.02
R4839:Hspa13	UTSW	16	75,562,169 (GRCm39)	missense	probably damaging	1.00
R5621:Hspa13	UTSW	16	75,563,651 (GRCm39)	utr 5 prime	probably benign
R5782:Hspa13	UTSW	16	75,554,985 (GRCm39)	missense	probably damaging	1.00
R6428:Hspa13	UTSW	16	75,554,874 (GRCm39)	missense	probably damaging	1.00
R6597:Hspa13	UTSW	16	75,562,085 (GRCm39)	missense	probably damaging	1.00
R6746:Hspa13	UTSW	16	75,561,925 (GRCm39)	missense	possibly damaging	0.89
Z1088:Hspa13	UTSW	16	75,555,073 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TACCAGCACTCCCTCAGTTCAG -3'
(R):5'- TAGACCTGGCCTTTCTGAAAGC -3'

Sequencing Primer
(F):5'- AGCACTCCCTCAGTTCAGTTGAAG -3'
(R):5'- CCTGGCCTTTCTGAAAGCAAGAG -3'

Posted On

2018-11-06